System D-Endocrine

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System D-Endocrine
2012-09-23 20:25:13

System D
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  1. Bardet-Biedl Syndrome
    • Congenital hypopituitarism
    • -auto-recessive
    • -Progressive vision loss (nyctalopia, constricted fields, low VA)
    • -retinal dystrophy, polydactyly, hypogonadism, obesity, nephropahty, cognitive impairment
  2. Retinitis pigmentosa
    • -rods of peripheral retina degenerate (dark spicules)
    • -thinning vasculature
    • -yellowish, waxy looking optic nerve
  3. Craniopharyngioma
    • -benign, pituitary tumor
    • -vision and field defects
    • -risk of hydrocephalus
    • -high rate in children
    • -surgery, radiation (sometimes)
  4. Hemochromatosis
    • -def'n: recessive metabolic disorder, high iron absoprtion (tosic levels in organs)
    • -affects: males
    • -Sxs: bronze diabetes, hypothyrodism, cirrhosis, jaundice, fatigue
    • -treatment: phlebotomies
  5. Gigantism and acromegaly
    • -def'n: excess GH release
    • -Sxs: bi-temporal VF loss, hyperhidosis, excessive growth, amenorrhea, headaches, weakness
    • -Treat: Surgery
  6. Functional thyroid tests?
    • -Complete blood count (CBC) with diff
    • -thyroid panel
    • -Cat Scan (CT) of orbits
  7. Graves' disease
    • -def'n: autoimmune disease, over-production of AB binding to TSH receptor -> hyperthyroidism
    • -affects: women 6:1 men (20-40)
    • -Sxs: thyrotoxicosis, goiter, ophthalmopathy (TAO, dry eye, coreanl problems, extruding out) and fibrosis/scaring, thyroid dermopathy
  8. TAO
    • Thyroid-assisted ophthalmopathy
    • -most common cause of proptosis in adults
    • -most common cause of orbital disease
  9. Ocular Sxs of Graves' disease?
    • no Signs or Sxs
    • Only lid retractions
    • Soft tissue involvement (edema)
    • Proptosis (>20mm)
    • EOM paresis (esp IR and MR thickening)
    • Corneal involvement (keratisis, superior limbic keratoconjunctivitis (severe TAO), corneal ulcer)
    • Sight Loss (optic neuropathy, retinopathy, diplopia)
  10. Dalrymple sign
    • -wide palpebrale fissure due to lid retraction
    • -graves' disease (hyperthyroidism)
  11. Stellwag sign
    • stare, infreq blink
    • -GRaves' disease (hyperthyroidism)
  12. Von Graefe sign
    • -life lag on downward gaze
    • -GRaves' disease (hyperthyroidism)
  13. Optic neuropathy
    • -optic nerve compression
    • -optic atrophy
  14. Retinopathy
    • -edema: retinal folds
    • -hemorrhages
  15. Hasimoto's Thyroiditis
    • -def'n: autoimmune primary hypothyroidism
    • -affects: females (5:1)
    • -Sxs: lassitude, cold intolerance, weight gain, hair loss, dry coarsening skin, delayed reflexes
  16. Adult hypothyroidism
    -ocular sequelae (puffy lids and periorbital skin, madarosis)
  17. Cretinism
    • -def'n: congenital hypothyroidism
    • -arrested development, protuberant abdomen, bone dystrophies, delayed puberty, facial abnormalities and enlarged tongue
  18. Thyroid cancer
    • -def'n: malignant neoplasm
    • -affects: women (3:1), euthyroid individuals
    • -Sxs: nodules (enlarged)
    • -Dx: ultrasound and fine needle biopsy
    • -Tx: surgery (thyroidectomy, lobectomy), radiation
  19. Cushing's Syndrome
    • -def'n: Adrenal cortex disease, benign pituitary adenoma cuasing excess cortisol release
    • -affects: females (3:1) 20-50
    • -Sxs: upper body obesity, moon face, weakened skin and bones, fatigue, diabetes mellitus
    • -Tx: surgery, hydrocortisone replacement therapy, radiation therapy
  20. Pheochromocytoma
    • -def'n: benign tumor in adrenal medulla -> excess adrenaline
    • -affects: males and females equally, rare
    • -Sxs: visual disturbances (hypertensive retinopathy, headaches, hypertneion, hyperhidrosis, tachycarida, anxiety, chest/abdominal pain, nausea
    • -Tx: laparoscopic adrenalectorny (surgery to remove abnormal parts), anti-HT agents
  21. Hypertensive retinopathy
    • -cotton wool spots ("soft exudates" form when cells die. ischemic conditions)
    • -hard exudates (lipids released from damaged cells)
    • -flame hemorrhages (b/c blood traveling through NFL)
    • -ONH swelling (NOT papilledema becuase bp is high and NOT brain pressure)